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- W1966693463 abstract "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is a cerebrovasuclar disease caused by NOTCH3 mutations, usually localized to exons 3 and 4. This report describes the clinical and neuroradiological findings of 2 subjects of two unrelated Japanese families who shared a common p.Arg332Cys mutation. The subject from family A presented syncope attacks as the sole clinical presentation at the beginning of his disease course. The subject from family B showed recurrent ischemic attacks, followed by a large intracranial hemorrhage. This is the first report to describe the detailed phenotypes of patients with a rare p.Arg332Cys mutation in Japan." @default.
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- W1966693463 date "2011-01-01" @default.
- W1966693463 modified "2023-09-26" @default.
- W1966693463 title "p.Arg332Cys Mutation of NOTCH3 Gene in Two Unrelated Japanese Families with CADASIL" @default.
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- W1966693463 doi "https://doi.org/10.2169/internalmedicine.50.5418" @default.
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